No paralogue variants have been mapped to residue 1030 for KCNH2.
| KCNH2 | -RQYQELPRCPAPTP-SLLN----IPL-SS>P<GRRPRGDV-ESRLDALQRQLNRLETRLSAD | 1059 |
| KCNH1 | ----KSEDWNKVSKA-ESME----TLP-E->-<----RTKA-S-----GEATLKKTDSCDSGI | 884 |
| KCNH3 | -PKFSFRVGQSGPE--CSSSPSPGPES-G->-<--LLTVPH-GPSEARNTDTLDKLRQAVTEL | 888 |
| KCNH4 | -PSFRFSRRPELPRP-RSQA----PPT-GT>R<P-SPELAS-EAEEVK--EKVCRLNQEISRL | 890 |
| KCNH5 | -HEEKKEDWNNVTKA-ESMG----LLS-ED>P<KSSDSENS-V-----TKNPLRKTDSCDSGI | 868 |
| KCNH6 | -QGHASYILEAPASN-DLAL----VPI-AS>E<TTSPGPRL-P------QGFLPPAQTPSYGD | 903 |
| KCNH7 | -SALQRAAWGISET---------------->E<SDLTYGEV-EQRLDLLQEQLNRLESQMTTD | 1052 |
| KCNH8 | -QTFDFGSERIRSEP-RISP-----PLGDP>E<IGAAVLFI-KAEETK--QQINKLNSEVTTL | 877 |
| CNGA1 | ------------T----------------->-<------------------------------ | 690 |
| CNGA2 | ------------P----------------->-<------------------------------ | 664 |
| CNGA3 | ------------Q----------------->-<------------------------------ | 694 |
| CNGA4 | -GRASQEGPPGPE----------------->-<------------------------------ | 575 |
| CNGB1 | -PRTPPEPP---------G------SP-PS>S<PPPAS------------------------- | 1204 |
| CNGB3 | -GREPEEKPLDRPECTA-S------PI-AV>E<EEPHS------------------------- | 769 |
| HCN1 | --VQQSQPPQTQPQQPS-PQPQTPG---S->-<STPKNEVH-KSTQALHNTNLTREVRPLSAS | 789 |
| HCN2 | ---ASPRAPR-----TS------------->-<PYGGLPAAPLAGPALPARRLSRASRPLSAS | 823 |
| HCN3 | RTLHASLSRAGRSQ-VSLLG--PP------>-<--P----------GGGGRRLGPRGRPLSAS | 715 |
| HCN4 | RTFPSAPPRASGSH-GSLLL--PPASS-P->-<PPPQVPQR-RGTPPLTPGRLTQDLKLISAS | 1089 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P1030S | c.3088C>T | Putative Benign | rs78976657 | SIFT: tolerated Polyphen: possibly damaging |